一只混种犬的GM2神经节苷脂贮积症0型（桑德霍夫病）

GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog.

作者信息

Kohyama Moeko, Yabuki Akira, Kawasaki Yasuaki, Kawaguchi Hiroaki, Miura Naoki, Kitano Yoshiaki, Onitsuka Toshinori, Rahman Mohammad Mahbubur, Miyoshi Noriaki, Yamato Osamu

机构信息

From the Laboratories of Clinical Pathology (M.K., A.Y., M.M.R., O.Y.), Behavioral Physiology and Ecology (Y.Ka.), Veterinary Histopathology (H.K., N.Miy.), and Diagnostic Imaging (N.Miu.) of the Joint Faculty of Veterinary Medicine, Kagoshima University, Kagoshima, Japan; Kitano Animal Hospital, Izumi, Japan (Y.Ki.); and Minamata Animal Hospital, Minamata, Japan (T.O.).

出版信息

J Am Anim Hosp Assoc. 2015 Nov-Dec;51(6):396-400. doi: 10.5326/JAAHA-MS-6258.

DOI:10.5326/JAAHA-MS-6258

PMID:26535459

Abstract

GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive, neurodegenerative lysosomal storage disease caused by simultaneous deficiencies of acid β-hexosaminidases A and B. Canine SD has so far been identified only in two purebreeds. In this article, we present the case of a 10 mo old, male dog of mixed breed that developed progressive neurological signs including ataxia, postural deficit, and visual deficits and finally died at the age of 21 mo. The dog was diagnosed with SD on the basis of the results of biochemical and histopathological analyses. This is the third report of canine SD and the first time it has been identified in a mixed breed.

摘要

GM2神经节苷脂沉积症0型（桑德霍夫病，SD）是一种致命的、进行性的神经退行性溶酶体贮积病，由酸性β-己糖胺酶A和B同时缺乏引起。犬类SD迄今为止仅在两个纯种犬中被发现。在本文中，我们报告了一例10月龄的杂种雄性犬病例，该犬出现了包括共济失调、姿势缺陷和视觉缺陷在内的进行性神经症状，最终于21月龄时死亡。根据生化和组织病理学分析结果，该犬被诊断为SD。这是犬类SD的第三份报告，也是首次在杂种犬中发现该病。